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Tytuł:
Functional Consequences of CFTR Interactions in Cystic Fibrosis.
Autorzy:
Ramananda Y; Department of Pediatrics, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Department of Medicine, Division of Pulmonary and Critical Care Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Naren AP; Department of Pediatrics, Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Department of Medicine, Division of Pulmonary and Critical Care Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Arora K; Department of Medicine, Division of Pulmonary and Critical Care Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 16; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 16.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cystic Fibrosis*/metabolism
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Quality of Life ; Precision Medicine ; Signal Transduction ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Cystic Fibrosis Mice Are Highly Susceptible to Repeated Acute Pseudomonas aeruginosa Pneumonia after Intranasal Inoculation.
Autorzy:
Manzor M; Department of Anesthesiology, Critical Care and Pain Medicine, Cardiac Anesthesia Division, Boston Children's Hospital, Boston, USA.
Koutsogiannaki S; Department of Anesthesiology, Critical Care and Pain Medicine, Cardiac Anesthesia Division, Boston Children's Hospital, Boston, USA.; Department of Anaesthesia, Harvard Medical School, Boston, USA.; Department of Immunology, Harvard Medical School, Boston, USA.; Broad Institute of MIT and Harvard, Cambridge, USA.
DiBlasi M; Department of Anesthesiology, Critical Care and Pain Medicine, Critical Care Division, Boston Children's Hospital, Boston, USA.
Schaefers M; Department of Anaesthesia, Harvard Medical School, Boston, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Critical Care Division, Boston Children's Hospital, Boston, USA.
Priebe G; Department of Anaesthesia, Harvard Medical School, Boston, USA.; Broad Institute of MIT and Harvard, Cambridge, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Critical Care Division, Boston Children's Hospital, Boston, USA.; Department of Pediatrics, Division of Infectious Diseases, Boston Children's Hospital, Boston, USA.
Yuki K; Department of Anesthesiology, Critical Care and Pain Medicine, Cardiac Anesthesia Division, Boston Children's Hospital, Boston, USA.; Department of Anaesthesia, Harvard Medical School, Boston, USA.; Department of Immunology, Harvard Medical School, Boston, USA.; Broad Institute of MIT and Harvard, Cambridge, USA.
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Źródło:
BioMed research international [Biomed Res Int] 2024 Feb 05; Vol. 2024, pp. 4769779. Date of Electronic Publication: 2024 Feb 05 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/genetics
Cystic Fibrosis*/microbiology
Pneumonia*/complications
Pseudomonas Infections*/microbiology
Humans ; Mice ; Animals ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Pseudomonas aeruginosa ; Persistent Infection ; Mice, Transgenic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
OrgaSegment: deep-learning based organoid segmentation to quantify CFTR dependent fluid secretion.
Autorzy:
Lefferts JW; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.
Kroes S; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.
Smith MB; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, 3584 CB, Utrecht, The Netherlands.
Niemöller PJ; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.
Nieuwenhuijze NDA; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, 3584 CB, Utrecht, The Netherlands.
Sonneveld van Kooten HN; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands.; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, 3584 CB, Utrecht, The Netherlands.
van der Ent CK; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands.
Beekman JM; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands. .; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands. .; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, 3584 CB, Utrecht, The Netherlands. .
van Beuningen SFB; Department of Pediatric Respiratory Medicine, Wilhelmina Children's Hospital, University Medical Center, Utrecht University, 3584 EA, Utrecht, The Netherlands. .; Regenerative Medicine Utrecht, University Medical Center, Utrecht University, 3584 CT, Utrecht, The Netherlands. .; Centre for Living Technologies, Alliance TU/e, WUR, UU, UMC Utrecht, 3584 CB, Utrecht, The Netherlands. .
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Źródło:
Communications biology [Commun Biol] 2024 Mar 13; Vol. 7 (1), pp. 319. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:
Journal Article
MeSH Terms:
Deep Learning*
Cystic Fibrosis*/genetics
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Intestines ; Organoids
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evaluation of the efficiency of nanomicellar formulation of fat-soluble vitamins in patients with cystic fibrosis: the study protocol for a randomized controlled trial.
Autorzy:
Soleimanzadeh M; Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Talebi S; Department of Nutrition, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. .
Jaafari MR; Nanotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.
Sayedi SJ; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.
Emadzadeh M; Clinical Research Development Unit, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Kianifar HR; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.
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Źródło:
Trials [Trials] 2024 Jan 16; Vol. 25 (1), pp. 60. Date of Electronic Publication: 2024 Jan 16.
Typ publikacji:
Clinical Trial Protocol; Journal Article
MeSH Terms:
Cystic Fibrosis*/diagnosis
Cystic Fibrosis*/drug therapy
Child ; Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Quality of Life ; Iran ; Prospective Studies ; Single-Blind Method ; Dietary Supplements ; Vitamins/therapeutic use ; Vitamin A ; Vitamin K ; Randomized Controlled Trials as Topic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exploring the Mechanism of Activation of CFTR by Curcuminoids: An Ensemble Docking Study.
Autorzy:
Bellacchio E; Genetica Molecolare e Genomica Funzionale, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 31; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 31.
Typ publikacji:
Journal Article
MeSH Terms:
Curcumin*/pharmacology
Cystic Fibrosis*
Humans ; Diarylheptanoids ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Nucleotides ; Adenosine Triphosphate
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Longitudinal microbial and molecular dynamics in the cystic fibrosis lung after Elexacaftor-Tezacaftor-Ivacaftor therapy.
Autorzy:
Martin C; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA.
Guzior DV; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA.; Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI, USA.
Gonzalez CT; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA.
Okros M; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA.
Mielke J; Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Padillo L; Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Querido G; Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Gil M; Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Thomas R; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, USA.
McClelland M; Corewell Health, Grand Rapids, MI, USA.
Conrad D; Department of Medicine, University of California San Diego, La Jolla, CA, USA.
Widder S; Department of Medicine, Research Division Infection Biology, Medical University of Vienna, Vienna, Austria.
Quinn RA; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI, USA. .
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Źródło:
Respiratory research [Respir Res] 2023 Dec 16; Vol. 24 (1), pp. 317. Date of Electronic Publication: 2023 Dec 16.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/diagnosis
Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/genetics
Humans ; Molecular Dynamics Simulation ; RNA, Ribosomal, 16S ; Lung ; Cystic Fibrosis Transmembrane Conductance Regulator ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel Co-Culture Model Reveals Enhanced CFTR Rescue in Primary Cystic Fibrosis Airway Epithelial Cultures with Persistent Pseudomonas aeruginosa Infection.
Autorzy:
Cholon DM; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Greenwald MA; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Department of Microbiology and Immunology, University of North Carolina, Chapel Hill, NC 27599, USA.
Higgs MG; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Department of Microbiology and Immunology, University of North Carolina, Chapel Hill, NC 27599, USA.
Quinney NL; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Boyles SE; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Meinig SL; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Pharmaceutical Product Development (PPD), Thermo Fisher Scientific, Morrisville, NC 27560, USA.
Minges JT; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Chaubal A; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Tarran R; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Division of Genetic, Department of Internal Medicine, Environmental and Inhalational Disease, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Ribeiro CMP; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Division of Pulmonary Diseases, Department of Medicine, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Department of Cell Biology and Physiology, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
Wolfgang MC; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Department of Microbiology and Immunology, University of North Carolina, Chapel Hill, NC 27599, USA.
Gentzsch M; Marsico Lung Institute and Cystic Fibrosis Research Center, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Department of Cell Biology and Physiology, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.; Division of Pediatric Pulmonology, Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA.
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Źródło:
Cells [Cells] 2023 Nov 13; Vol. 12 (22). Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cystic Fibrosis*/metabolism
Pseudomonas Infections*/drug therapy
Pseudomonas Infections*/microbiology
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Coculture Techniques ; Lung/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
The impact of SARS-CoV-2 infection in patients with cystic fibrosis undergoing CFTR channel modulators treatment: a literature review.
Autorzy:
Vitiello A; Directorate General for Health Prevention, Ministry of Health, Rome, Italy.
Sabbatucci M; Directorate General for Health Prevention, Ministry of Health, Rome, Italy.; Department Infectious Diseases, National Institute of Health, Rome, Italy.
Silenzi A; Directorate General for Health Prevention, Ministry of Health, Rome, Italy.
Capuano A; Section of Pharmacology 'L. Donatelli', Department of Experimental Medicine, Campania Regional Centre for Pharmacovigilance and Pharmacoepidemiology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Rossi F; Section of Pharmacology 'L. Donatelli', Department of Experimental Medicine, Campania Regional Centre for Pharmacovigilance and Pharmacoepidemiology, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Zovi A; Directorate General for Hygiene, Food Safety and Nutrition, Ministry of Health, Rome, Italy. .
Blasi F; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. .; Internal Medicine Department, Respiratory Unit and Cystic Fibrosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy. .
Rezza G; Directorate General for Health Prevention, Ministry of Health, Rome, Italy.
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Źródło:
Respiratory research [Respir Res] 2023 Nov 13; Vol. 24 (1), pp. 278. Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/metabolism
COVID-19*
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; RNA, Viral ; SARS-CoV-2
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Inhibition of mucus secretion by niclosamide and benzbromarone in airways and intestine.
Autorzy:
Ousingsawat J; Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Centeio R; Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Reyne N; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
McCarron A; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Cmielewski P; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Schreiber R; Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
diStefano G; Department of Gastroenterology, Hannover Medical School, 30625, Hannover, Germany.
Römermann D; Department of Gastroenterology, Hannover Medical School, 30625, Hannover, Germany.
Seidler U; Department of Gastroenterology, Hannover Medical School, 30625, Hannover, Germany.
Donnelley M; Robinson Research Institute and Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.
Kunzelmann K; Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 17; Vol. 14 (1), pp. 1464. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/drug therapy
Asthma*
Humans ; Mice ; Rats ; Animals ; Niclosamide/pharmacology ; Benzbromarone/pharmacology ; Benzbromarone/therapeutic use ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/therapeutic use ; Anoctamin-1 ; Mucus ; Intestines
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
Autorzy:
Li L; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Qu X; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Cui C; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Feng K; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Xia Y; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Wan F; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Ge H; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Fang Y; Department of Reproductive Medicine Center, Zhengzhou University People's Hospital, Zhengzhou, Henan, China.
Zhang C; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
Guo H; Department of Reproductive Medicine Center, People's Hospital of Henan University, Henan Provincial People's Hospital, Zhengzhou, Henan, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2364.
Typ publikacji:
Journal Article
MeSH Terms:
Infertility, Male*/genetics
Cystic Fibrosis*/genetics
Cystic Fibrosis*/pathology
Male Urogenital Diseases*
Humans ; Male ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Pedigree ; Semen ; Mutation ; Vas Deferens/abnormalities ; China
SCR Disease Name:
Congenital bilateral aplasia of vas deferens
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Prime editing-mediated correction of the CFTR W1282X mutation in iPSCs and derived airway epithelial cells.
Autorzy:
Li C; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Liu Z; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Anderson J; Department of Pediatrics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Liu Z; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Tang L; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Li Y; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Peng N; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Chen J; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Liu X; Key Laboratory of Imaging Processing and Intelligent Control, School of Artificial Intelligence and Automation, Huazhong University of Science and Technology, Wuhan, Hubei, China.
Fu L; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Townes TM; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Rowe SM; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Department of Medicine, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Bedwell DM; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Guimbellot J; Department of Pediatrics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
Zhao R; Department of Biochemistry and Molecular Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.; Gregory Fleming James Cystic Fibrosis Research Center, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama, United States of America.
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Źródło:
PloS one [PLoS One] 2023 Nov 29; Vol. 18 (11), pp. e0295009. Date of Electronic Publication: 2023 Nov 29 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Induced Pluripotent Stem Cells*
Cystic Fibrosis*/therapy
Cystic Fibrosis*/drug therapy
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Mutation ; Codon, Nonsense ; Epithelial Cells
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Pathogenic Variants and Genotypes of the CFTR Gene in Russian Men with Cystic Fibrosis and CBAVD Syndrome.
Autorzy:
Chernykh V; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Pirogov Russian National Research Medical University of the Ministry of Healthcare of the Russian Federation, 117997 Moscow, Russia.
Krasovsky S; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Solovova O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Adyan T; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Stepanova A; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Marnat E; Pirogov Russian National Research Medical University of the Ministry of Healthcare of the Russian Federation, 117997 Moscow, Russia.
Shtaut M; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Sedova A; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Sorokina T; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Beskorovainaya T; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kondratyeva E; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Shchagina O; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Polyakov A; Research Centre for Medical Genetics, 115522 Moscow, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 14; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/genetics
Male ; Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Vas Deferens ; Mutation ; Genotype ; Russia
SCR Disease Name:
Congenital bilateral aplasia of vas deferens
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
Autorzy:
McDonald EF; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.
Oliver KE; Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, United States of America.; Center for Cystic Fibrosis and Airways Diseases, Children's Healthcare of Atlanta and Emory University, Atlanta, Georgia, United States of America.
Schlebach JP; Department of Chemistry, Purdue University, West Lafyette, Indiana, United States of America.
Meiler J; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Center for Structural Biology, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Pharmacology, Vanderbilt University, Nashville, Tennessee, United States of America.; Institute for Drug Discovery, Leipzig University, Leipzig, Germany.
Plate L; Department of Chemistry, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee, United States of America.; Department of Pathology, Microbiology and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Jan 25; Vol. 19 (1), pp. e0297560. Date of Electronic Publication: 2024 Jan 25 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/genetics
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Benchmarking ; Virulence ; Mutation, Missense ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dual species sphingosine-1-phosphate lyase inhibitors to combine antifungal and anti-inflammatory activities in cystic fibrosis: a feasibility study.
Autorzy:
Cellini B; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy. .
Pampalone G; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Camaioni E; Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.
Pariano M; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Catalano F; Department of Biochemical Sciences 'A. Rossi Fanelli', Sapienza University of Rome, Rome, Italy.
Zelante T; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Dindo M; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Macchioni L; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Di Veroli A; Department of Chemistry, Biology and Biotechnology, University of Perugia, Perugia, Italy.
Galarini R; Centro Sviluppo e Validazione Metodi, Istituto Zooprofilattico Sperimentale dell'Umbria e delle Marche 'Togo Rosati', Perugia, Italy.
Paoletti F; Centro Sviluppo e Validazione Metodi, Istituto Zooprofilattico Sperimentale dell'Umbria e delle Marche 'Togo Rosati', Perugia, Italy.
Davidescu M; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Stincardini C; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Vascelli G; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Bellet MM; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Saba J; Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Giovagnoli S; Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy.
Giardina G; Department of Biochemical Sciences 'A. Rossi Fanelli', Sapienza University of Rome, Rome, Italy.
Romani L; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy.
Costantini C; Department of Medicine and Surgery, University of Perugia, P.le Lucio Severi 1, 06132, Perugia, Italy. .
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Źródło:
Scientific reports [Sci Rep] 2023 Dec 20; Vol. 13 (1), pp. 22692. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/drug therapy
Humans ; Animals ; Mice ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Antifungal Agents/pharmacology ; Antifungal Agents/therapeutic use ; Feasibility Studies ; Inflammation ; Anti-Inflammatory Agents/pharmacology ; Anti-Inflammatory Agents/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.
Autorzy:
Dębczyński M; 2nd Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, 15-540 Bialystok, Poland.
Gorrieri G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16132 Genoa, Italy.
Mojsak D; 2nd Department of Lung Diseases and Tuberculosis, Medical University of Bialystok, 15-540 Bialystok, Poland.
Guida F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16132 Genoa, Italy.
Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16132 Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Scudieri P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, 16132 Genoa, Italy.; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
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Źródło:
Biomolecules [Biomolecules] 2023 Sep 27; Vol. 13 (10). Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/metabolism
Respiration Disorders*
Respiratory Tract Diseases*/drug therapy
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/metabolism ; Ion Transport ; Protons ; H(+)-K(+)-Exchanging ATPase/metabolism ; H(+)-K(+)-Exchanging ATPase/therapeutic use
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Autorzy:
Ideozu JE; Genomic Medicine, Genomics Research Center, AbbVie, Chicago, IL, USA. .
Liu M; Human Genetics, Genomics Research Center, AbbVie, Chicago, IL, USA.
Riley-Gillis BM; Human Genetics, Genomics Research Center, AbbVie, Chicago, IL, USA.
Paladugu SR; Human Genetics, Genomics Research Center, AbbVie, Chicago, IL, USA.
Rahimov F; Human Genetics, Genomics Research Center, AbbVie, Chicago, IL, USA.
Krishnan P; Precision Medicine, AbbVie, Chicago, IL, USA.
Tripathi R; Precision Medicine, AbbVie, Chicago, IL, USA.
Dorr P; Precision Medicine, AbbVie, Chicago, IL, USA.
Levy H; Department of Pediatrics, Division of Pulmonology and Sleep Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Singh A; Discovery Research, AbbVie, Chicago, IL, USA.
Waring JF; Genomic Medicine, Genomics Research Center, AbbVie, Chicago, IL, USA.; Human Genetics, Genomics Research Center, AbbVie, Chicago, IL, USA.
Vasanthakumar A; Genomic Medicine, Genomics Research Center, AbbVie, Chicago, IL, USA.
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Źródło:
Genome medicine [Genome Med] 2024 Mar 21; Vol. 16 (1), pp. 43. Date of Electronic Publication: 2024 Mar 21.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/genetics
Cystic Fibrosis Transmembrane Conductance Regulator*/genetics
Humans ; Biological Specimen Banks ; Exome ; Mutation ; UK Biobank
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.
Autorzy:
Efremova A; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kashirskaya N; Research Centre for Medical Genetics, Moscow 115522, Russia.; Moscow Regional Research and Clinical Institute ('MONIKI'), Moscow 129110, Russia.
Krasovskiy S; Research Centre for Medical Genetics, Moscow 115522, Russia.; Pulmonology Scientific Research Institute under Federal Medical and Biological Agency of Russian Federation, Moscow 115682, Russia.
Melyanovskaya Y; Research Centre for Medical Genetics, Moscow 115522, Russia.
Krasnova M; Research Centre for Medical Genetics, Moscow 115522, Russia.
Mokrousova D; Research Centre for Medical Genetics, Moscow 115522, Russia.
Bulatenko N; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kondratyeva E; Research Centre for Medical Genetics, Moscow 115522, Russia.
Makhnach O; Research Centre for Medical Genetics, Moscow 115522, Russia.
Bukharova T; Research Centre for Medical Genetics, Moscow 115522, Russia.
Zinchenko R; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kutsev S; Research Centre for Medical Genetics, Moscow 115522, Russia.
Goldshtein D; Research Centre for Medical Genetics, Moscow 115522, Russia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 27; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis Transmembrane Conductance Regulator*/genetics
Cystic Fibrosis*/genetics
Aminophenols*
Aminopyridines*
Quinolones*
Humans ; Colforsin/therapeutic use ; Mutation ; Benzodioxoles/pharmacology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor.
Autorzy:
Ferreira FC; Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon, 1749-016 Lisbon, Portugal.
Buarque CD; Department of Chemistry, Pontifical Catholic University of Rio de Janeiro (PUC-Rio), Rio de Janeiro 22435-900, RJ, Brazil.
Lopes-Pacheco M; Biosystems & Integrative Sciences Institute (BioISI), Faculty of Sciences, University of Lisbon, 1749-016 Lisbon, Portugal.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2024 Feb 10; Vol. 29 (4). Date of Electronic Publication: 2024 Feb 10.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cystic Fibrosis Transmembrane Conductance Regulator*/metabolism
Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/genetics
Cystic Fibrosis*/metabolism
Aminopyridines*
Indoles*
Pyrazoles*
Pyridines*
Pyrrolidines*
Quinolones*
Humans ; Quality of Life ; Benzodioxoles/pharmacology ; Benzodioxoles/therapeutic use ; Aminophenols/pharmacology ; Aminophenols/therapeutic use ; Mutation ; Chemistry Techniques, Synthetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Reduced Sphingosine in Cystic Fibrosis Increases Susceptibility to Mycobacterium abscessus Infections.
Autorzy:
Schnitker F; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Liu Y; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.; West German Heart and Vascular Center, Thoracic Transplantation, Department of Thoracic and Cardiovascular Surgery, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.
Keitsch S; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Soddemann M; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Verhasselt HL; Institute of Medical Microbiology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Kehrmann J; Institute of Medical Microbiology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Grassmé H; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
Kamler M; West German Heart and Vascular Center, Thoracic Transplantation, Department of Thoracic and Cardiovascular Surgery, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany.
Gulbins E; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.; Department of Surgery, University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA.
Wu Y; Department of Molecular Biology, Institute of Molecular Biology, University Hospital Essen, University of Duisburg-Essen, 45122 Essen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Sep 12; Vol. 24 (18). Date of Electronic Publication: 2023 Sep 12.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/complications
Cystic Fibrosis*/drug therapy
Mycobacterium Infections, Nontuberculous*/complications
Mycobacterium Infections, Nontuberculous*/drug therapy
Humans ; Animals ; Mice ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Sphingosine ; Nontuberculous Mycobacteria
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fibrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients.
Autorzy:
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Castelli G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Blaconà G; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Bruno SM; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Sette G; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Pigliucci R; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Villella VR; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate S.c.a.r.l, Naples, Italy.
Esposito S; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate S.c.a.r.l, Naples, Italy.
Zollo I; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate S.c.a.r.l, Naples, Italy.
Spadaro F; Confocal Microscopy Unit, Core Facilities, Istituto Superiore di Sanità, Rome, Italy.
Maria R; Dipartimento di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Rome, Italy.; Fondazione Policlinico Universitario 'A. Gemelli'-IRCCS, Rome, Italy.
Biffoni M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Cimino G; Cystic Fibrosis Reference Center of Lazio Region, AOU Policlinico Umberto I, Rome, Italy.
Amato F; Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Naples, Italy.; CEINGE-Biotecnologie Avanzate S.c.a.r.l, Naples, Italy.
Lucarelli M; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.; Pasteur Institute, Cenci Bolognetti Foundation, Sapienza University of Rome, Rome, Italy.
Eramo A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy. .
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Źródło:
Respiratory research [Respir Res] 2023 Sep 06; Vol. 24 (1), pp. 217. Date of Electronic Publication: 2023 Sep 06.
Typ publikacji:
Journal Article
MeSH Terms:
Cystic Fibrosis*/drug therapy
Cystic Fibrosis*/genetics
Humans ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
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